Varaico: Literature-Extracted Genetic Variants

Gene:SNCAIP
Variant:p.R621C
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SNCAIP

NM_005460.4:p.R621C

Associated Papers

CDK5 Inhibits Synphilin-1 Ubiquitination and Basal Mitophagy: Implications for Parkinson's Disease.

Savyon M et al.

International Journal of Molecular Sciences, 2025

Co-occurrence of Parkinson's disease and Retinitis Pigmentosa: A genetic and in silico analysis.

Dwivedi A et al.

Neuroscience, 2025

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM16_ESM.xlsx › S16

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

35056738 (PubMed )
Supplement: molecules-27-00423-s001.zip › SupplementaryFileS4.xlsx › Sheet1

KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth.

Anastasaki C et al.

Oncotarget, 2017

28548933 (PubMed )
Supplement: oncotarget-08-47574-s002.xlsx › Sheet1

The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Hoffmann MJ et al.

Bladder Cancer (amsterdam, Netherlands), 2016

28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs

The Protein Complex of Neurodegeneration-related Phosphoinositide Phosphatase Sac3 and ArPIKfyve Binds the Lewy Body-associated Synphilin-1, Preventing Its Aggregation.

Ikonomov OC et al.

The Journal of Biological Chemistry, 2015

Splicing variants of porcine synphilin-1.

Larsen K et al.

Meta Gene, 2015

Next-generation sequencing of salivary high-grade neuroendocrine carcinomas identifies alterations in RB1 and the mTOR pathway.

Goyal B et al.

Experimental and Molecular Pathology, 2014

Parkinson's disease: from genetics to treatments.

Fan HC et al.

Cell Transplantation, 2013

Genetically engineered mouse models of Parkinson's disease.

Crabtree DM et al.

Brain Research Bulletin, 2012

The Guanine nucleotide exchange factor kalirin-7 is a novel synphilin-1 interacting protein and modifies synphilin-1 aggregate transport and formation.

Tsai YC et al.

Plos One, 2012

Synphilin-1 inhibits alpha-synuclein degradation by the proteasome.

Alvarez-Castelao B et al.

Cellular and Molecular Life Sciences : Cmls, 2011

Identification of Parkinson's disease candidate genes using CAESAR and screening of MAPT and SNCAIP in South African Parkinson's disease patients.

Keyser RJ et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2011

Synphilin-1 enhances α-synuclein aggregation in yeast and contributes to cellular stress and cell death in a Sir2-dependent manner.

Büttner S et al.

Plos One, 2010

Synphilin-1 attenuates neuronal degeneration in the A53T alpha-synuclein transgenic mouse model.

Smith WW et al.

Human Molecular Genetics, 2010

Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease.

Soehn AS et al.

Neurogenetics, 2010

Transgenic overexpression of the alpha-synuclein interacting protein synphilin-1 leads to behavioral and neuropathological alterations in mice.

Nuber S et al.

Neurogenetics, 2010

Aggregate formation and toxicity by wild-type and R621C synphilin-1 in the nigrostriatal system of mice using adenoviral vectors.

Krenz A et al.

Journal of Neurochemistry, 2009

Genes associated with Parkinson syndrome.

Biskup S et al.

Journal of Neurology, 2008

Microarray expression analysis reveals genetic pathways implicated in C621 synphilin-1-mediated toxicity.

Bonin M et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2008

Genetic association study of synphilin-1 in idiopathic Parkinson's disease.

Myhre R et al.

Bmc Medical Genetics, 2008

Synphilin-1 isoforms in Parkinson's disease: regulation by phosphorylation and ubiquitylation.

Szargel R et al.

Cellular and Molecular Life Sciences : Cmls, 2008

The proteasomal subunit S6 ATPase is a novel synphilin-1 interacting protein--implications for Parkinson's disease.

Marx FP et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2007

Genetics of Parkinson's disease and parkinsonism.

Douglas MR et al.

Expert Review of Neurotherapeutics, 2007

Mutation analysis of the seven in absentia homolog 1 (SIAH1) gene in Parkinson's disease.

Franck T et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2006

alpha-Synuclein is colocalized with 14-3-3 and synphilin-1 in A53T transgenic mice.

Shirakashi Y et al.

Acta Neuropathologica, 2006

Interactions of Synphilin-1 with phospholipids and lipid membranes.

Takahashi T et al.

Febs Letters, 2006

Caspase-3-derived C-terminal product of synphilin-1 displays antiapoptotic function via modulation of the p53-dependent cell death pathway.

Giaime E et al.

The Journal of Biological Chemistry, 2006

Parkin and defective ubiquitination in Parkinson's disease.

Dawson TM

Journal of Neural Transmission. Supplementum, 2006

The role of synphilin-1 in synaptic function and protein degradation.

Krüger R

Cell and Tissue Research, 2004

Parkin-associated Parkinson's disease.

von Coelln R et al.

Cell and Tissue Research, 2004

Genetic contributions to Parkinson's disease.

Huang Y et al.

Brain Research. Brain Research Reviews, 2004

Unraveling the pathogenesis of Parkinson's disease--the contribution of monogenic forms.

Bonifati V et al.

Cellular and Molecular Life Sciences : Cmls, 2004

Screening for mutations in synaptotagmin XI in Parkinson's disease.

Glass AS et al.

Journal of Neural Transmission. Supplementum, 2004

Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease.

Marx FP et al.

Human Molecular Genetics, 2003

Spectrum of phenotypes and genotypes in Parkinson's disease.

Riess O et al.

Journal of Neurology, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."